R9W (p.Arg9Trp) variant of BAX (Apoptosis regulator BAX)
R9W (p.Arg9Trp) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- rs1287193257
- gnomAD 19-48954934-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 17.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available